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《科学》 第392卷 第6796期 · 2026年4月23日 · 中文解读

唐氏综合征基因组的早期动态

Early dynamics of the genome in Down syndrome · T. Haydar and Z. Li
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两项研究利用单核多组学测序揭示了唐氏综合征大脑中细胞类型特异性的早期基因组变化,包括神经发生加速和神经炎症。
原文开头
Cell type–specific early hallmarks of Down syndrome are uncovered Tarik Haydar and Zhen Li D own syndrome (or trisomy 21) is a disorder caused by the triplication of human chromosome 21 (HSA21) and is the most common genetic cause of intellectual disability (1). The brain is substantially altered by trisomy 21 beginning prenatally, leading to profound changes in brain size and function. Down syndrome is an exceedingly complex multigenic disor- der with phenotypes that unfold across the lifespan. This complexity has hampered understanding of how the brain is affected by trisomy 21, negatively impacting clinical management and quality of life for people with Down syndrome. On pages 385 and 386 of this issue, Ris- gaard et al. …
摘自《科学》(Science)第392卷 第6796期 · 2026年4月23日,T. Haydar and Z. Li。仅引用开头一小段供了解文章,版权归原刊所有,全文请阅读原刊。
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